Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.S571R

TPO

753 papers

RefSeq Summary

This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues ...

Pfam Domains

An_peroxidaseaa 151–709UCSCAnimal haem peroxidase
Sushiaa 742–794UCSCSushi repeat (SCR repeat)
EGF_CAaa 796–838UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

thyroid peroxidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001206744.2
p.S571R
c.1713C>A
Surrounding Variants
2 papers
NM_001206744.2
p.S571R
c.1713C>G
1 paper
NM_001206744.2
p.T572fs
c.1714_1715fs
1 paper
NM_001206744.2
p.T572delFs
c.1714_1715delAC
2 papers
NM_001206744.2
p.S571R
c.1711A>C
6 papers
NM_001206744.2
p.L575del1
c.1723_1724delCTG
2 papers
NM_001206744.2
p.A576E
c.1727C>A
1 paper
NM_001206744.2
p.A576V
c.1727C>T
1 paper
NM_001206744.2
p.A576A
c.1728G>A
1 paper
NM_001206744.2
p.V566insFs
c.1696dupG
1 paper
NM_001206744.2
p.L564_F565insFs
c.1692_1693insA
1 paper
NM_001206744.2
p.L564I
c.1690C>A
1 paper
NM_001206744.2
p.E562D
c.1686A>C
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